MCID: CHR359
MIFTS: 19

Chronic Infections, Due to Mbl Deficiency malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Aliases & Descriptions for Chronic Infections, Due to Mbl Deficiency:

Name: Chronic Infections, Due to Mbl Deficiency 52 12
Mannose-Binding Protein Deficiency 52 24 25 27 68
Mannose-Binding Lectin Deficiency 24 25
Mbl2 Deficiency 24 25
 
Mbp Deficiency 24 25
Susceptibility to Infection in Immunocompromised Patient 54
Mannose-Binding Lectin Protein Deficiency 25
Mbl Deficiency 25

Classifications:



External Ids:

OMIM52 614372
Orphanet54 ORPHA449306

Summaries for Chronic Infections, Due to Mbl Deficiency

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Genetics Home Reference:25 Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels of an immune system protein called mannose-binding lectin in their blood. These individuals are prone to recurrent infections, including infections of the upper respiratory tract and other body systems. People with this condition may also contract more serious infections such as pneumonia and meningitis. Depending on the type of infection, the symptoms caused by the infections vary in frequency and severity.

MalaCards based summary: Chronic Infections, Due to Mbl Deficiency, also known as mannose-binding protein deficiency, is related to mannose-binding lectin protein deficiency and systemic lupus erythematosus. An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (Mannose Binding Lectin 2). Affiliated tissues include liver.

OMIM:52 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of... (614372) more...

Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Diseases related to Chronic Infections, Due to Mbl Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mannose-binding lectin protein deficiency11.4
2systemic lupus erythematosus9.8
3malaria9.8
4hepatitis9.8
5hepatitis b9.8
6tuberculosis9.8
7lupus erythematosus9.8
8wallerian degeneration9.7
9meningococcemia9.7

Graphical network of diseases related to Chronic Infections, Due to Mbl Deficiency:



Diseases related to chronic infections, due to mbl deficiency

Symptoms & Phenotypes for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Genetic tests related to Chronic Infections, Due to Mbl Deficiency:

id Genetic test Affiliating Genes
1 Mannose-Binding Protein Deficiency27 24 MBL2

Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

36
Liver

Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MBL2NM_ 000242.2(MBL2): c.161G> A (p.Gly54Asp)SNVPathogenicrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_ 000242.2(MBL2): c.154C> T (p.Arg52Cys)SNVPathogenicrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Sources for Chronic Infections, Due to Mbl Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet